raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:209185

Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)

Type
Category
Group
Group of disorders
Status
active

This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enQualitative or quantitative defects of beta-myosin heavy chain (MYH7)
frAnomalie qualitative ou quantitative de la chaîne lourde bêta de la myosine (MYH7)
deBeta-Myosinschwerkette (MYH7), qualitative oder quantitative Defekte
esAnomalías cualitativas o cuantitativas de la cadena pesada de la beta-miosina (MYH7)
itAlterazioni qualitative o quantitative della catena pesante della beta-miosina (MYH7)
nlKwalitatieve of kwantitatieve defecten van bèta-myosine zware keten (MYH7)
ptDeficiências qualitativas e quantitativas da cadeia pesada de beta-miosina (MYH7)
plDefekty jakościowe lub ilościowe beta-miozyny łańcuchów ciężkich (MYH7)
csKvalitativní nebo kvantitativní defekty těžkého řetězce beta-myozinu (MYH7)
ukЯкісні або кількісні дефекти важкого ланцюга бета-міозину (MYH7)
zhβ-肌球蛋白重链（MYH7）的定性或定量缺陷
trBeta-miyozin ağır zincirinin (MYH7) kalitatif veya kantitatif defekti
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
MONDO0016195Evalidated
MONDO16195Evalidated
UMLSC5680832Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

Children (2):

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

7

Sources for this card